Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.
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X-linked disorders with cerebellar dysgenesisMajor influence of repetitive elements on disease-associated copy number variants (CNVs)Copy-number gains of HUWE1 due to replication- and recombination-based rearrangementsClinical impacts of genomic copy number gains at Xq28Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability.The chromatin regulator Brpf1 regulates embryo development and cell proliferationGeneration and characterization of an Nxf7 knockout mouse to study NXF5 deficiency in a patient with intellectual disability.De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation.Searching for Copy Number Changes in Nonsyndromic X-Linked Intellectual Disability.Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration.MECP2 Duplication SyndromeNF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications.The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability.A three-step workflow procedure for the interpretation of array-based comparative genome hybridization results in patients with idiopathic mental retardation and congenital anomalies.Dosage compensation of the sex chromosomes and autosomes.Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality.Modelling Autistic Neurons with Induced Pluripotent Stem Cells.X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.Infectious and immunologic phenotype of MECP2 duplication syndrome.De novo interstitial triplication of MECP2 in a girl with neurodevelopmental disorder and random X chromosome inactivation.Major histocompatibility complex class II deficiency complicated by Mycobacterium avium complex in a boy of mixed ethnicity.The LCR at the IKBKG locus is prone to recombine.A novel X-linked disorder with developmental delay and autistic features.Deletion of the 5'exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome.Conserved microRNA targeting reveals preexisting gene dosage sensitivities that shaped amniote sex chromosome evolution.MECP2 Duplications in Symptomatic Females: Report on 3 Patients Showing the Broad Phenotypic Spectrum.Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability
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P2860
Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on December 2009
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
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name
Dosage-dependent severity of t ...... d by an unusual recombination.
@en
Dosage-dependent severity of t ...... d by an unusual recombination.
@nl
type
label
Dosage-dependent severity of t ...... d by an unusual recombination.
@en
Dosage-dependent severity of t ...... d by an unusual recombination.
@nl
prefLabel
Dosage-dependent severity of t ...... d by an unusual recombination.
@en
Dosage-dependent severity of t ...... d by an unusual recombination.
@nl
P2093
P2860
P50
P1476
Dosage-dependent severity of t ...... ed by an unusual recombination
@en
P2093
Anita Rauch
Christiane Spaich
Elly Pijkels
Guy Froyen
Hilde Van Esch
Isabel Fernandez
Jean-Pierre Fryns
Jelle Verbeeck
Joke Vandewalle
Jürgen Kohlhase
P2860
P304
P356
10.1016/J.AJHG.2009.10.019
P407
P577
2009-12-01T00:00:00Z